Associated Papers
Deficiency of psmb6 suppresses proteasome activity and promotes apoptosis in larval zebrafish brain.
Xiao W et al.
Biochemical and Biophysical Research Communications, 2025
Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.
Cuinat S et al.
Genes & Diseases, 2024
Biallelic variants in PSMB1 encoding the proteasome subunit β6 cause impairment of proteasome function, microcephaly, intellectual disability, developmental delay and short stature.
Ansar M et al.
Human Molecular Genetics, 2020
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